{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573082323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 980,
          "referenceAllele": "I",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010524",
      "geneNCBI_id": 6299,
      "geneSymbol": "SALL1",
      "hgvs": [
        "NP_002959.2:p.Ile980Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8053012",
          "hgvs": "NM_002968.3:c.2938A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1319510[alleleid]",
        "alleleId": 1319510,
        "preferredName": "NM_002968.3(SALL1):c.2938A>T (p.Ile980Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1328823",
        "RCV": [
          "RCV001797455",
          "RCV002478028"
        ],
        "variationId": 1328823
      }
    ]
  },
  "type": "amino-acid"
}